Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder

European Journal of Human Genetics

Volumn 25, Issue 8, 2017, Pages 1011-1014

  Ghoumid, Jamal ^a,b,c   Petit, Florence ^a,b,c   Boute Benejean, Odile ^a,b   Frenois, Frédéric ^a,b   Cartigny, Maryse ^a   Vanlerberghe, Clémence ^a,b,c   Smol, Thomas ^b,c,d   Caumes, Roseline ^a   De Roux, Nicolas ^a,e,f   Manouvrier Hanu, Sylvie ^a,b,c  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b University of North France   (France)

^c UNIV LILLE   (France)

^d INSERM   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

4H LEUKODYSTROPHY; ADOLESCENT; ARTICLE; ATAXIC GAIT; CASE REPORT; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CHILD; COGNITIVE DEFECT; DISEASE SEVERITY; DYSARTHRIA; DYSMETRIA; ENDOSTEAL SCLEROSIS; FEMALE; GENE; GENE IDENTIFICATION; GENERAL CONDITION DETERIORATION; GENETIC SCREENING; GENETIC VARIATION; GROWTH RETARDATION; HETEROZYGOTE; HIGH MYOPIA; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; LANGUAGE DELAY; LEUKODYSTROPHY; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; POLR3 GENE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN STRUCTURE; PYRAMIDAL SIGN; SANGER SEQUENCING; SCLEROSIS; TREMOR; WALKING DIFFICULTY; CEREBELLAR ATAXIA; GENETICS; MISSENSE MUTATION; OSTEOSCLEROSIS;

DNA DIRECTED RNA POLYMERASE III; POLR3B PROTEIN, HUMAN;

ADOLESCENT; CEREBELLAR ATAXIA; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; OSTEOSCLEROSIS; RNA POLYMERASE III;

EID: 85024371120     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2017.73     Document Type: Article

References (14)

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